Canonical Allele Identifier: CA392000483
Gene: CAPN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402991G>C , CM000677.2:g.42402991G>C GRCh38
NC_000015.9:g.42695189G>C , CM000677.1:g.42695189G>C GRCh37
NC_000015.8:g.40482481G>C NCBI36
NG_008660.1:g.59889G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1590G>C ENSP00000183936.4:p.Arg530Ser
ENST00000357568.8:c.1734G>C ENSP00000350181.3:p.Arg578Ser
ENST00000397163.8:c.1734G>C MANE Select ENSP00000380349.3:p.Arg578Ser
ENST00000466369.5:n.2243G>C
ENST00000483208.5:n.2623G>C
ENST00000495723.1:n.2623G>C
ENST00000549793.5:n.1965G>C
ENST00000638141.2:n.1605G>C
ENST00000673646.1:c.198G>C ENSP00000501007.1:p.Arg66Ser
ENST00000673705.1:c.309+3339G>C ENSP00000501021.1:n.309+3339G>C
ENST00000673813.1:n.580+76G>C
ENST00000318023.11:c.1590G>C ENSP00000326281.8:p.Arg530Ser
ENST00000349748.7:c.1590G>C ENSP00000183936.4:p.Arg530Ser
ENST00000357568.7:c.1734G>C ENSP00000350181.3:p.Arg578Ser
ENST00000397163.7:c.1734G>C ENSP00000380349.3:p.Arg578Ser
ENST00000397200.8:c.198G>C ENSP00000380384.4:p.Arg66Ser
ENST00000567071.5:c.193G>C
ENST00000569827.5:c.198G>C ENSP00000454379.1:p.Arg66Ser
NM_000070.2:c.1734G>C NP_000061.1:p.Arg578Ser
NM_024344.1:c.1734G>C NP_077320.1:p.Arg578Ser
NM_173087.1:c.1590G>C NP_775110.1:p.Arg530Ser
NM_173088.1:c.198G>C NP_775111.1:p.Arg66Ser
NM_000070.3:c.1734G>C MANE Select NP_000061.1:p.Arg578Ser
NM_024344.2:c.1734G>C NP_077320.1:p.Arg578Ser
NM_173087.2:c.1590G>C NP_775110.1:p.Arg530Ser
NM_173088.2:c.198G>C NP_775111.1:p.Arg66Ser